Essays on Science and SocietyGenome-Sequencing Anniversary

Genomics and Clinical Relevance

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Science  04 Feb 2011:
Vol. 331, Issue 6017, pp. 547
DOI: 10.1126/science.1202572

When I interact with physicians, I realize that the clinical questions they think are most relevant are more sophisticated than those posed by the first wave of whole-genome studies. When I ask questions that are clinically relevant, they are not what I asked myself in 2001, when the landmark human genome–sequencing papers were published. At that time, my thinking process was DNA-driven: What is functional? What is normal genome variation? What amazes me in retrospect is that I did not appreciate the fact that genomic information and technologies would grow more than a millionfold in the following decade and, in a way, leap-frog other critical initiatives in health research. Now, clinicians are more and more concerned by overdetection, overdiagnosis, and overtreatment of diseases, as a result of sensitive tests (e.g., prostate-specific antigen for prostate cancer). Whether the disease involves cancer, metabolism, inflammation, or neurodegeneration, it becomes apparent that we have a limited knowledge of disease processes over time and, consequently, limited knowledge of when to intervene and to what degree. In some patients, this leads to unnecessary complications, whereas in others, the failure to act early is irreparable.


If I could move the clock back to 2001 and change course, I would invest significantly more in developing large clinical resources with detailed clinical histories, deep phenotyping, and longitudinal follow-up in order to better understand outcomes and treatment responses. If genomics was now being integrated with such resources, we would be closer to achieving a form of personalized medicine that clinicians would be eager to adopt.

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